Author

Caro Bos

Radboud University Medical CenterORCID 0000-0001-5016-9435Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alina Braun· 1 shared Anukrati Nigam· 1 shared Bernhard SchermeriD· 1 shared Bodo Bernhard BeckiD· 1 shared Carsten BergmanniD· 1 shared Claudia Dafinger· 1 shared David M. SabatiniiD· 1 shared Deborah P. Jones· 1 shared

Activity by Year

2021-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Alina Braun

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1 paper

Recent·Most cited

GeneticsbioRxivPreprintMar 11, 2021

mTOR-activating mutations in RRAGD cause kidney tubulopathy and cardiomyopathy (KICA) syndrome

Karl P. Schlingmann, François Jouret, Kuang Shen…·Jeroen H. F. de Baaij

The paper identifies mTOR-activating mutations in RRAGD causing kidney tubulopathy and cardiomyopathy (KICA) syndrome through genetic and functional analyses of patient cohorts.

1 citation

humanwhole-exome sequencing

𝕏 PostBluesky